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Penetrance

Known as: Genetic Penetrance 
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From… Expand
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
The phenotypic differences between individual organisms can often be ascribed to underlying genetic and environmental variation… Expand
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Highly Cited
2008
Highly Cited
2008
Summary Background Mutations in LRRK2, the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD… Expand
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Highly Cited
2007
Highly Cited
2007
PURPOSE Genetic counseling is now routinely offered to individuals at high risk of carrying a BRCA1 or BRCA2 mutation. Risk… Expand
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Highly Cited
2006
Highly Cited
2006
We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast… Expand
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Highly Cited
2002
Highly Cited
2002
BACKGROUND There has been much interest in screening populations for disease-associated mutations. A favoured candidate has been… Expand
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Review
2002
Review
2002
Point mutations in the coding regions of genes are commonly assumed to exert their effects by altering single amino acids in the… Expand
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Highly Cited
2002
Highly Cited
2002
Mutations in BRCA1 and BRCA2 confer a high risk of breast and ovarian cancer, but account for only a small fraction of breast… Expand
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Highly Cited
2001
Highly Cited
2001
A population-based series of 649 unselected incident cases of ovarian cancer diagnosed in Ontario, Canada, during 1995-96 was… Expand
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Highly Cited
1999
Highly Cited
1999
BACKGROUND It is still currently held that most patients affected by the long-QT syndrome (LQTS) show QT interval prolongation or… Expand
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Highly Cited
1998
Highly Cited
1998
The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families… Expand
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